Results 71 to 80 of about 1,256 (158)
[Autosomal dominant punctate palmoplantar keratoderma].
Hereditary punctate palmoplantar keratoderma or Buschke-Fisher-Brauer disease is a rare form of keratoderma that follows a pattern of autosomal dominant inheritance with variable penetrance. The age of onset is usually between 12 and 30 years of age. Clinically, it is characterized by the gradual appearance of multiple punctate hyperkeratotic papules ...
Susana, Mallo +4 more
openaire +1 more source
Hereditary Painful Callosities Treated with L5 and S1 Pulsed Radiofrequency, Case Report
Hereditary palmoplantar Keratoderma (PPK) varies in presentation, where palm and sole lesions can be diffuse, focal or punctate. There is no specific curative treatment for hereditary PPK, and the resulting pain may significantly strain all aspects of ...
Moustafa Moustafa +2 more
doaj +1 more source
Father and daughter with thickened palms and soles in primary care [PDF]
Introduction: Palmoplantar keratoderma (PPK) is characterised by excessive thickening of the palms and soles. Hereditary PPK is rare with prevalence in Asia estimated at 1 to 3 per 10,000.
Abdul Hadi, Azwanis +2 more
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JEADV Clinical Practice, Volume 3, Issue 3, Page 912-913, July 2024.
Paula Finnegan, Oonagh Molloy
wiley +1 more source
Clinical Study on Palmoplantar Keratoderma [PDF]
INTRODUCTION : Palmoplantar keratodermas are a heterogenous group of disorders characterized by hyperkeratosis of palms and soles. They may be inherited or acquired disorders.
Mohanasundari, P S
core
Punctate Palmoplantar Keratoderma Type 1: A Novel AAGAB Mutation and Efficacy of Etretinate
Punctate palmoplantar keratoderma type 1 (PPKP1, OMIM#148600), also known as the Buschke-FischerBraurer type, is a rare form of palmoplantar keratoderma that is autosomal dominantly inherited (1). PPKP1 is clinically characterised by multiple punctate hyperkeratotic papules affecting the palmar and plantar skin, with considerable phenotypic variation ...
Nomura, Toshifumi +10 more
openaire +4 more sources
Discovery in Genetic Skin Disease: The Impact of High Throughput Genetic Technologies [PDF]
The last decade has seen considerable advances in our understanding of the genetic basis of skin disease, as a consequence of high throughput sequencing technologies including next generation sequencing and whole exome sequencing.
Asakawa +23 more
core +1 more source
Skin disorders affecting the feet [PDF]
Skin disorders of the feet can affect the glabrous skin on the dorsal aspects, or the thick skin on the plantar aspects, thereof, or both. Some can affect one foot, and others both of them.
Motswaledi, MH
core +1 more source
Molecular Genetics of Keratinization Disorders - What\u27s New About Ichthyosis [PDF]
The heritable forms of keratinization disorders, including various forms of ichthyosis and keratodermas, comprise a phenotypically heterogeneous group of diseases which can be divided into syndromic and non-syndromic forms.
Saeidian, Amir Hossein +3 more
core +1 more source
Hereditary punctate palmoplantar keratoderma type I (PPPK1) is a rare autosomal dominant disorder characterized by hyperkeratotic papules on the palms and soles, typically appearing in adolescence but occasionally manifesting later in life.
Lanyu Sun +6 more
doaj

